As many on Dailystrength know, recent genetics discoveries are expanding basic science research into the basic mechanism of health and disease. Over the past decade, gene alterations conferring an increased risk for adult onset conditions such as cancer, diabetes, cardiovascular, and other common diseases have been identified. Identification of genetically susceptible people is seen as a way to tailor prevention efforts and thereby improve their effectiveness and provide new strategies for disease management.
Why is this exciting? The hope surrounding genetic discoveries is an assumption that knowing the basic pathophysiology will enable us to better treat and prevent disease. I would caution you though that knowing the molecular or genetic basis of disease has not directly translated into improved outcomes for all conditions...as an example, understanding the mutation in sickle cell anemia has not lead to improved care.
Does identifying genetic risk always improve patient outcome? No, not always, but it can. In patients with inherited breast or ovarian cancer, intensified surveillance, chemoprevention (Tamoxifen), radiation and prophylactic surgery can improve outcome.
What are the downsides? 1) For some diseases we do genetic testing (ALS, Alzheimer's disease, etc) there is a lack of proven effective interventions for those identified to be at increased risk 2) Diagnosis of an increased genetic risk may be of benefit or harm 3) ascertaining genetic risk has implications for the patient's family as well as for the patient.
Where can I get genetic testing? Most cancer Hospitals have genetic counselors on staff you can meet with for pre and post testing counseling. There are also online genetic testing services available and one is offering something exciting to many of us on DS.
What is 23andme? As you can read on their website, 23andMe is a personal genetics company dedicated to helping individuals understand their own genetic information through DNA analysis technologies and web-based interactive tools.
What is their current project the "research revolution"? Between July 7, 2009 and Sept 30, 2009 23andme is looking for folks to join and pledge their support for research if they are 1) Patients who have been affected by a disease that is part of their program (list below) 2) Friends and family members of individuals who have been affected by a disease 3) People passionate about disease research.
For more details see https://www.23andme.com/researchrevolution/
Why could this be really good? 23andMe will give a voice to and drive new research for each disease reaching a minimum number of patients to seed the community. 23andme hopes to complete a Genome Wide Association Study for each community that reaches critical mass hoping to advance genetic research into diseases that affect countless people.
What diseases will be part of the initial program?
Lymphoma and Leukemia
Severe Food Allergies
If you or someone in your family has been affected by these conditions check out the website and see what you think: https://www.23andme.com/researchrevolution/
Disclaimer: As per usual neither I nor anyone on DS have a personal interest in 23andme....I just want to pass along potentially exciting opportunities.